Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.29 (A)

Chromosome 5:79126136 (forward strand) | View in location tab


with HGMD-PUBLIC CM031139

Most severe consequence
Missense variant
Evidence status


This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 6 transcripts, has 4067 sample genotypes and is mentioned in 39 citations.

Variant displays